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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:anterior segment dysgenesis 6
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Accession:DOID:0080611 term browser browse the term
Definition:An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: ASGD6;   anterior segment dysgenesis 6, multiple subtypes
 narrow_synonym: IRIDO-CORNEO-TRABECULAR DYSGENESIS
 broad_synonym: CYP1B1-RELATED CONDITION;   CYP1B1-related disorder
 primary_id: OMIM:617315


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anterior segment dysgenesis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes OMIM
ClinVar		 PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 More... NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        Eye Abnormalities 771
          anterior segment dysgenesis 34
            anterior segment dysgenesis 6 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              corneal disease 221
                sclerocornea 37
                  anterior segment dysgenesis 34
                    anterior segment dysgenesis 6 1
paths to the root